NM_000152.5(GAA):c.1551+12C>A AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002062618.6
Allele description [Variation Report for NM_000152.5(GAA):c.1551+12C>A]
NM_000152.5(GAA):c.1551+12C>A
Condition(s)
- Name:
- Glycogen storage disease, type II (GSD2)
- Synonyms:
- ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300
-
Mus musculus nerve growth factor receptor (TNFR superfamily, member 16) (Ngfr), ...
Mus musculus nerve growth factor receptor (TNFR superfamily, member 16) (Ngfr), mRNAgi|70794802|ref|NM_033217.2|Nucleotide
-
Homo sapiens component of inhibitor of nuclear factor kappa B kinase complex (CH...
Homo sapiens component of inhibitor of nuclear factor kappa B kinase complex (CHUK), transcript variant 1, mRNAgi|1519245267|ref|NM_001278.5|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024